Linked Data
dbSNP Id:
rs2324851
gnomAD v2:
13-43160930-A-G
gnomAD v3:
13-42586794-A-G
gnomAD v4:
13-42586794-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42586794A>G , CM000675.2:g.42586794A>G | GRCh38 |
| NC_000013.10:g.43160930A>G , CM000675.1:g.43160930A>G | GRCh37 |
| NC_000013.9:g.42058930A>G | NCBI36 |
| NG_008990.1:g.29059A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398795.7:c.387+5501A>G MANE Select | ENSP00000381775.3:n.387+5501A>G | |
| ENST00000239849.8:c.246+5501A>G | ENSP00000239849.7:n.246+5501A>G | |
| ENST00000358545.6:c.168+5501A>G | ENSP00000351347.2:n.168+5501A>G | |
| ENST00000398795.6:c.387+5501A>G | ENSP00000381775.3:n.387+5501A>G | |
| ENST00000405262.6:c.168+5501A>G | ENSP00000384042.2:n.168+5501A>G | |
| ENST00000544862.5:c.168+5501A>G | ENSP00000444913.1:n.168+5501A>G | |
| NM_003701.3:c.387+5501A>G | NP_003692.1:n.387+5501A>G | |
| NM_033012.3:c.168+5501A>G | NP_143026.1:n.168+5501A>G | |
| XM_011535280.1:c.168+5501A>G | XP_011533582.1:n.168+5501A>G | |
| XM_011535280.2:c.168+5501A>G | XP_011533582.1:n.168+5501A>G | |
| XM_017020802.1:c.225+5501A>G | XP_016876291.1:n.225+5501A>G | |
| XM_017020803.2:c.168+5501A>G | XP_016876292.1:n.168+5501A>G | |
| NM_003701.4:c.387+5501A>G MANE Select | NP_003692.1:n.387+5501A>G | |
| NM_033012.4:c.168+5501A>G | NP_143026.1:n.168+5501A>G |